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Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.

Human molecular genetics - 1 Feb 2003

El Ghouzzi Vincent, Dagoneau Nathalie, Kinning Esther, Thauvin-Robinet Christel, Chemaitilly Wassim, Prost-Squarcioni Catherine, Al-Gazali Lihadh I, Verloes Alain, Le Merrer Martine, Munnich Arnold, Trembath Richard C, Cormier-Daire Valérie

Abstract excerpt

Dyggve-Melchior-Clausen syndrome (DMC) is a rare autosomal-recessive disorder, the gene for which maps to chromosome 18q21.1. DMC is characterized by the association of a spondylo-epi-metaphyseal dysplasia and mental retardation. Electron microscopic study of cutaneous cells of an affected child showed dilated rough endoplasmic reticulum, enlarged and aberrant vacuoles and numerous vesicles. As the etiology of...

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PMID: 12554689
DOI: 10.1093/hmg/ddg029

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.PMID 12554689Read ↗

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Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.Semantic proximity Read ↗

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.Semantic proximity Read ↗

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Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus.Semantic proximity Read ↗

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Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.Semantic proximity Read ↗

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